Canonical Allele Identifier: CA3249308642

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728730_214728732del , CM000664.2:g.214728730_214728732del	GRCh38
NC_000002.11:g.215593454_215593456del , CM000664.1:g.215593454_215593456del	GRCh37
NC_000002.10:g.215301699_215301701del	NCBI36
NG_012047.2:g.85973_85975del
NG_012047.3:g.85980_85982del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.2278_2280del MANE Select	NP_000456.2:p.Ser760del
ENST00000260947.9:c.2278_2280del MANE Select	ENSP00000260947.4:p.Ser760del
NM_000465.3:c.2278_2280del	NP_000456.2:p.Ser760del
NM_001282543.1:c.2221_2223del	NP_001269472.1:p.Ser741del
NM_001282543.2:c.2221_2223del	NP_001269472.1:p.Ser741del
NM_001282545.1:c.925_927del	NP_001269474.1:p.Ser309del
NM_001282545.2:c.925_927del	NP_001269474.1:p.Ser309del
NM_001282548.1:c.868_870del	NP_001269477.1:p.Ser290del
NM_001282548.2:c.868_870del	NP_001269477.1:p.Ser290del
NM_001282549.1:c.739_741del	NP_001269478.1:p.Ser247del
NM_001282549.2:c.739_741del	NP_001269478.1:p.Ser247del
NR_104212.1:n.2271_2273del
NR_104212.2:n.2243_2245del
NR_104215.1:n.2214_2216del
NR_104215.2:n.2186_2188del
NR_104216.1:n.1470_1472del
NR_104216.2:n.1442_1444del
ENST00000260947.8:c.2278_2280del	ENSP00000260947.4:p.Ser760del
ENST00000421162.2:c.925_927del	ENSP00000392245.2:p.Ser309del
ENST00000432456.5:c.421_423del
ENST00000455743.5:c.*1898_*1900del	ENSP00000412186.1:n.*1898_*1900del
ENST00000471590.5:n.613_615del
ENST00000613192.1:c.448_450del	ENSP00000483275.1:p.Ser150del
ENST00000613192.2:c.*341_*343del	ENSP00000483275.2:n.*341_*343del
ENST00000613374.4:c.868_870del	ENSP00000484464.1:p.Ser290del
ENST00000613374.5:c.868_870del	ENSP00000484464.1:p.Ser290del
ENST00000613706.4:c.925_927del	ENSP00000484976.1:p.Ser309del
ENST00000613706.5:c.1870_1872del	ENSP00000484976.2:p.Ser624del
ENST00000617164.4:c.2221_2223del	ENSP00000480470.1:p.Ser741del
ENST00000617164.5:c.2221_2223del	ENSP00000480470.1:p.Ser741del
ENST00000619009.4:c.739_741del	ENSP00000482293.1:p.Ser247del
ENST00000619009.5:c.739_741del	ENSP00000482293.1:p.Ser247del
ENST00000620057.4:c.*944_*946del	ENSP00000481988.1:n.*944_*946del
ENST00000650978.1:c.3653_3655del
XM_011511567.1:c.2224_2226del	XP_011509869.1:p.Ser742del
XM_017004613.1:c.2377_2379del	XP_016860102.1:p.Ser793del
XR_002959322.1:n.2644_2646del